Variant report

Variant	rs28486035
Chromosome Location	chr2:189890514-189890515
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10176287	0.92[ASN][1000 genomes]
rs10176565	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10178611	0.83[AFR][1000 genomes]
rs10194618	0.92[ASN][1000 genomes]
rs10194682	0.88[AFR][1000 genomes]
rs11686253	0.83[AFR][1000 genomes]
rs11885919	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11893117	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11898277	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12617111	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12693526	0.95[AFR][1000 genomes]
rs12693527	0.83[AFR][1000 genomes]
rs12989558	0.83[AFR][1000 genomes]
rs13008197	0.95[AFR][1000 genomes]
rs13401146	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13401377	0.93[AFR][1000 genomes]
rs28758810	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3923384	0.92[ASN][1000 genomes]
rs4666770	0.93[ASN][1000 genomes]
rs4667259	0.92[AFR][1000 genomes]
rs6414121	0.83[AFR][1000 genomes]
rs6434308	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6434309	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6434310	0.98[AFR][1000 genomes]
rs6434311	0.94[AFR][1000 genomes]
rs6434315	0.83[AFR][1000 genomes]
rs6717231	0.93[ASN][1000 genomes]
rs6738371	0.83[AFR][1000 genomes]
rs6760780	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7420715	0.93[ASN][1000 genomes]
rs7421040	0.87[AFR][1000 genomes]
rs7422861	0.91[ASN][1000 genomes]
rs7422977	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7423494	0.91[ASN][1000 genomes]
rs7423808	0.98[AFR][1000 genomes]
rs7423973	0.83[AFR][1000 genomes]
rs7562299	0.94[AFR][1000 genomes]
rs7565451	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7573709	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7576472	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7576474	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7587776	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7591905	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7602447	0.83[AFR][1000 genomes]
rs7606293	0.98[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875610	chr2:189796272-189904674	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189876200-189898600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:189877400-189897400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr2:189880200-189895200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:189881200-189895000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:189885200-189895600	Weak transcription	HSMMtube	muscle
6	chr2:189885200-189898800	Weak transcription	Colon Smooth Muscle	Colon
7	chr2:189885800-189895600	Weak transcription	Fetal Muscle Trunk	muscle
8	chr2:189886600-189895800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:189887200-189891000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:189887200-189895800	Weak transcription	Fetal Lung	lung
11	chr2:189887400-189891200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:189887400-189895400	Weak transcription	NH-A	brain
13	chr2:189887600-189895000	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr2:189887600-189895200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:189887600-189897400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr2:189888000-189902600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr2:189888000-189917400	Weak transcription	Ovary	ovary
18	chr2:189889200-189891000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:189889400-189890600	Enhancers	NHDF-Ad	bronchial
20	chr2:189889600-189890600	Enhancers	Osteobl	bone
21	chr2:189889800-189931000	Weak transcription	Esophagus	oesophagus
22	chr2:189890200-189891200	Strong transcription	HSMM	muscle
23	chr2:189890200-189891400	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:189890400-189895200	Weak transcription	Adipose Nuclei	Adipose
25	chr2:189890400-189895600	Weak transcription	NHLF	lung
26	chr2:189890400-189895800	Weak transcription	Fetal Muscle Leg	muscle
27	chr2:189890400-189896200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr2:189890400-189898600	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr2:189890400-189898800	Weak transcription	Aorta	Aorta
30	chr2:189890400-189899400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr2:189890400-189902800	Weak transcription	Fetal Stomach	stomach

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